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1
Detection of carriers of classic hemophilia using an immunologic assay for antihemophilic factor (factor 8().使用抗血友病因子（因子 VIII）免疫测定法检测经典血友病携带者。
J Clin Invest. 1971 Jan;50(1):255-8. doi: 10.1172/JCI106481.
2
Immunologic differentiation of classic hemophilia (factor 8 deficiency) and von Willebrand's dissase, with observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor.经典血友病（因子Ⅷ缺乏症）和血管性血友病的免疫学分型，以及关于抗血友病因子和加速素（因子Ⅴ）联合缺乏症和一种获得性抗血友病因子循环抗凝剂的观察
J Clin Invest. 1971 Jan;50(1):244-54. doi: 10.1172/JCI106480.
3
The detection of carriers of classic hemophilia. H. P. Smith Memorial Lecture.经典血友病携带者的检测。H. P. 史密斯纪念讲座。
Am J Clin Pathol. 1976 Feb;65(2):129-35. doi: 10.1093/ajcp/65.2.129.
4
Sources of variability in antihemophilic factor (factor VIII) procoagulant titers and precipitating antigen levels among obligate carriers of classic hemophilia.典型血友病携带者中抗血友病因子（凝血因子VIII）促凝滴度和沉淀抗原水平的变异性来源。
Blood. 1981 May;57(5):928-32.
5
Studies on the response of patients with classic hemophilia to transfusion with concentrates of antihemophilic factor. A difference in the half-life of antihemophilic factor as measured by procoagulant and immunologic techniques.经典血友病患者对抗血友病因子浓缩物输注反应的研究。通过促凝血和免疫技术测定的抗血友病因子半衰期的差异。
J Clin Invest. 1972 Oct;51(10):2593-6. doi: 10.1172/JCI107076.
6
Immunologic studies in von Willebrand's disease. Evidence that the antihemophilic factor (AHF) produced after transfusions lacks an antigen associated with normal AHF and the inactive material produced by patients with classic hemophilia.血管性血友病的免疫学研究。输血后产生的抗血友病因子（AHF）缺乏与正常AHF以及典型血友病患者产生的无活性物质相关的抗原的证据。
J Clin Invest. 1972 Oct;51(10):2597-601. doi: 10.1172/JCI107077.
7
The laboratory diagnosis of the carrier state for classic hemophilia.经典血友病携带者状态的实验室诊断
Ann Intern Med. 1977 May;86(5):521-8. doi: 10.7326/0003-4819-86-5-521.
8
Heckathorn's disease: variable functional dificiency of antihemophilic factor (factor VIII).赫克索恩病：抗血友病因子（因子VIII）功能可变缺乏症。
Blood. 1975 Aug;46(2):161-73.
9
Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content.对血管性血友病中缺乏的、血小板聚集所必需的一种血浆因子进行定量测定。与凝血因子VIII促凝活性及抗原含量的关系。
J Clin Invest. 1973 Nov;52(11):2708-16. doi: 10.1172/JCI107465.
10
Carrier detection in classical hemophilia.经典型血友病的携带者检测
Pediatrics. 1976 Feb;57(2):251-4.

引用本文的文献

1
Genetic analysis of carrier status in female members of Japanese hemophilia families.对日本血友病家系女性成员携带者状态的遗传分析。
J Thromb Haemost. 2021 Jun;19(6):1493-1505. doi: 10.1111/jth.15301. Epub 2021 May 5.
2
von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.在多聚体结构正常的患者中，血管性血友病因子突变增强了与血小板的相互作用。
J Clin Invest. 1993 May;91(5):2169-77. doi: 10.1172/JCI116443.
3
Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.色素失禁症与因子VIII突变在一名X染色体失活偏倚女性中的相互作用，导致血友病。
J Med Genet. 1993 Jun;30(6):497-500. doi: 10.1136/jmg.30.6.497.
4
Haemophilia: strategies for carrier detection and prenatal diagnosis.血友病：携带者检测与产前诊断策略
Bull World Health Organ. 1993;71(3-4):429-58.
5
Genetic counselling in haemophilia by discriminant analysis 1975-1980.1975 - 1980年血友病遗传咨询的判别分析
J Med Genet. 1982 Feb;19(1):26-34. doi: 10.1136/jmg.19.1.26.
6
Factor V (Quebec): a bleeding diathesis associated with a qualitative platelet Factor V deficiency.因子V（魁北克型）：一种与血小板因子V质量缺陷相关的出血素质。
J Clin Invest. 1984 Oct;74(4):1221-8. doi: 10.1172/JCI111531.
7
Studies on hemophilia A in Sardinia bearing on the problems of multiple allelism, carrier detection, and differential mutation rate in the two sexes.关于撒丁岛甲型血友病的研究，涉及复等位基因、携带者检测以及两性间差异突变率等问题。
Am J Hum Genet. 1984 Jan;36(1):44-71.
8
Molecular deficiencies of human blood coagulation.人类血液凝固的分子缺陷
Experientia. 1972 Jan 15;28(1):1-7. doi: 10.1007/BF01928228.
9
Factor VIII-related antigen in tissues detected by the indirect immunofluorescence technique.用间接免疫荧光技术检测组织中的 VIII 因子相关抗原。
Blut. 1974 Oct;29(4):241-9. doi: 10.1007/BF01635545.
10
Enhanced luminescence enzyme immunoassay for factor VIII related antigen.因子VIII相关抗原增强发光酶免疫测定法
J Clin Pathol. 1985 Mar;38(3):317-9. doi: 10.1136/jcp.38.3.317.

本文引用的文献

1
Genetic Considerations in Familial Hemorrhagic Disease. I. The Sex-Linked Recessive Disorders, Hemophilia and PTC Deficiency.家族性出血性疾病的遗传学考量。I. 性连锁隐性疾病、血友病和血浆凝血活酶前体缺乏症。
Am J Hum Genet. 1963 Mar;15(1):53-61.
2
ABNORMAL BLOOD COAGULATION IN CARRIERS OF HEMOPHILIA.血友病携带者的异常血液凝固
J Lab Clin Med. 1964 Apr;63:621-37.
3
The carrier state in hemophilia A.甲型血友病的携带者状态。
J Pediatr. 1962 Jan;60:77-83. doi: 10.1016/s0022-3476(62)80012-2.
4
Anti-hemophilic globulin levels in carriers of hemophilia A.甲型血友病携带者的抗血友病球蛋白水平。
J Clin Invest. 1960 Nov;39(11):1619-25. doi: 10.1172/JCI104184.
5
Plasma antihaemophilic factor (AHF) concentrations in families of patients with haemorrhagic states.出血性疾病患者家族中的血浆抗血友病因子（AHF）浓度。
Br J Haematol. 1959 Apr;5(2):184-93. doi: 10.1111/j.1365-2141.1959.tb04024.x.
6
Antihemophilic factor deficiency in the female.女性中的抗血友病因子缺乏症。
J Lab Clin Med. 1958 Mar;51(3):386-97.
7
The antihaemophilic-globulin concentration in the plasma of female carriers of haemophilia.血友病女性携带者血浆中抗血友病球蛋白的浓度。
Br J Haematol. 1957 Oct;3(4):377-8. doi: 10.1111/j.1365-2141.1957.tb05536.x.
8
A laboratory study of the carrier state in classic hemophilia.经典血友病携带者状态的实验室研究。
J Clin Invest. 1956 Nov;35(11):1316-23. doi: 10.1172/JCI103387.
9
Further studies on the inheritance of factor 8.关于凝血因子8遗传的进一步研究。
Br J Haematol. 1966 Mar;12(2):212-33. doi: 10.1111/j.1365-2141.1966.tb05627.x.
10
Immunologic differentiation of classic hemophilia (factor 8 deficiency) and von Willebrand's dissase, with observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor.经典血友病（因子Ⅷ缺乏症）和血管性血友病的免疫学分型，以及关于抗血友病因子和加速素（因子Ⅴ）联合缺乏症和一种获得性抗血友病因子循环抗凝剂的观察
J Clin Invest. 1971 Jan;50(1):244-54. doi: 10.1172/JCI106480.

使用抗血友病因子（因子 VIII）免疫测定法检测经典血友病携带者。

Detection of carriers of classic hemophilia using an immunologic assay for antihemophilic factor (factor 8().

作者信息

Zimmerman T S, Ratnoff O D, Littell A S

出版信息

J Clin Invest. 1971 Jan;50(1):255-8. doi: 10.1172/JCI106481.

DOI:10.1172/JCI106481
PMID:5543880
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC291914/
Abstract

The relation between functional antihemophilic factor (AHF) activity and AHF-like antigen was studied in the plasma of 25 known carriers of hemophilia. In 23 cases, this relationship was significantly different from that in normal women, at the 99% limit of confidence. In contrast, among families in which only one case of hemophilia had occurred, only five of nine mothers could be identified as carriers. This observation suggests that in some instances the hemophilia arose from a newly mutant gene. The data are consistent with the hypothesis that the proportion of antigen to AHF activity in carriers is determined by random activation or inactivation of the X chromosome.

摘要

对25名已知血友病携带者的血浆中功能性抗血友病因子（AHF）活性与AHF样抗原之间的关系进行了研究。在23例中，这种关系在99%的置信限下与正常女性有显著差异。相比之下，在仅出现一例血友病的家庭中，9名母亲中只有5名可被确定为携带者。这一观察结果表明，在某些情况下，血友病源于新的突变基因。这些数据与以下假设一致，即携带者中抗原与AHF活性的比例由X染色体的随机激活或失活决定。